Linked Data
dbSNP Id:
rs938955063
gnomAD v2:
2-141795660-C-G
gnomAD v3:
2-141038091-C-G
gnomAD v4:
2-141038091-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.141038091C>G , CM000664.2:g.141038091C>G | GRCh38 |
| NC_000002.11:g.141795660C>G , CM000664.1:g.141795660C>G | GRCh37 |
| NC_000002.10:g.141512130C>G | NCBI36 |
| NG_051023.1:g.1099373G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000389484.8:c.1789+10895G>C MANE Select | ENSP00000374135.3:n.1789+10895G>C | |
| ENST00000389484.7:c.1789+10895G>C | ENSP00000374135.3:n.1789+10895G>C | |
| ENST00000434794.1:c.206-55815G>C | ENSP00000413239.1:n.206-55815G>C | |
| ENST00000618808.4:c.1447+10895G>C | ENSP00000478868.1:n.1447+10895G>C | |
| NM_018557.2:c.1789+10895G>C | NP_061027.2:n.1789+10895G>C | |
| XM_011511352.1:c.1900+10895G>C | XP_011509654.1:n.1900+10895G>C | |
| XM_017004341.1:c.1399+10895G>C | XP_016859830.1:n.1399+10895G>C | |
| XR_001738778.1:n.3523+10895G>C | ||
| NM_018557.3:c.1789+10895G>C MANE Select | NP_061027.2:n.1789+10895G>C |